Canonical Allele Identifier: CA16032097

Gene: APC

Linked Data

• ClinVar Variation Id: 1172116
• ClinVar RCV Id: RCV001525745 ; RCV003653479
• dbSNP Id: rs2149927242
• gnomAD v4: 5-112840508-G-A
• MyVariant Identifiers: chr5:g.112176205G>A (hg19) ; chr5:g.112840508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840508G>A , CM000667.2:g.112840508G>A	GRCh38
NC_000005.9:g.112176205G>A , CM000667.1:g.112176205G>A	GRCh37
NC_000005.8:g.112204104G>A	NCBI36
NG_008481.4:g.152988G>A , LRG_130:g.152988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4968G>A	ENSP00000473355.2:p.Met1656Ile
ENST00000505350.2:c.*4920G>A	ENSP00000481752.1:n.*4920G>A
ENST00000507379.6:c.4860G>A	ENSP00000423224.2:p.Met1620Ile
ENST00000509732.6:c.4914G>A	ENSP00000426541.2:p.Met1638Ile
ENST00000512211.7:c.4914G>A	ENSP00000423828.3:p.Met1638Ile
ENST00000257430.9:c.4914G>A MANE Select	ENSP00000257430.4:p.Met1638Ile
ENST00000257430.8:c.4914G>A	ENSP00000257430.4:p.Met1638Ile
ENST00000508376.6:c.4914G>A	ENSP00000427089.2:p.Met1638Ile
ENST00000508624.5:c.*4236G>A	ENSP00000424265.1:n.*4236G>A
ENST00000520401.1:c.230+11536G>A
NM_000038.5:c.4914G>A	NP_000029.2:p.Met1638Ile
NM_001127510.2:c.4914G>A	NP_001120982.1:p.Met1638Ile
NM_001127511.2:c.4860G>A	NP_001120983.2:p.Met1620Ile
NM_001354895.1:c.4914G>A	NP_001341824.1:p.Met1638Ile
NM_001354896.1:c.4968G>A	NP_001341825.1:p.Met1656Ile
NM_001354897.1:c.4944G>A	NP_001341826.1:p.Met1648Ile
NM_001354898.1:c.4839G>A	NP_001341827.1:p.Met1613Ile
NM_001354899.1:c.4830G>A	NP_001341828.1:p.Met1610Ile
NM_001354900.1:c.4791G>A	NP_001341829.1:p.Met1597Ile
NM_001354901.1:c.4737G>A	NP_001341830.1:p.Met1579Ile
NM_001354902.1:c.4641G>A	NP_001341831.1:p.Met1547Ile
NM_001354903.1:c.4611G>A	NP_001341832.1:p.Met1537Ile
NM_001354904.1:c.4536G>A	NP_001341833.1:p.Met1512Ile
NM_001354905.1:c.4434G>A	NP_001341834.1:p.Met1478Ile
NM_001354906.1:c.4065G>A	NP_001341835.1:p.Met1355Ile
NM_000038.6:c.4914G>A MANE Select	NP_000029.2:p.Met1638Ile
NM_001127510.3:c.4914G>A	NP_001120982.1:p.Met1638Ile
NM_001127511.3:c.4860G>A	NP_001120983.2:p.Met1620Ile
NM_001354895.2:c.4914G>A	NP_001341824.1:p.Met1638Ile
NM_001354896.2:c.4968G>A	NP_001341825.1:p.Met1656Ile
NM_001354897.2:c.4944G>A	NP_001341826.1:p.Met1648Ile
NM_001354898.2:c.4839G>A	NP_001341827.1:p.Met1613Ile
NM_001354899.2:c.4830G>A	NP_001341828.1:p.Met1610Ile
NM_001354900.2:c.4791G>A	NP_001341829.1:p.Met1597Ile
NM_001354901.2:c.4737G>A	NP_001341830.1:p.Met1579Ile
NM_001354902.2:c.4641G>A	NP_001341831.1:p.Met1547Ile
NM_001354903.2:c.4611G>A	NP_001341832.1:p.Met1537Ile
NM_001354904.2:c.4536G>A	NP_001341833.1:p.Met1512Ile
NM_001354905.2:c.4434G>A	NP_001341834.1:p.Met1478Ile
NM_001354906.2:c.4065G>A	NP_001341835.1:p.Met1355Ile